Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia

Human Genetics ◽

10.1007/bf00201833 ◽

1991 ◽

Vol 86 (4) ◽

Author(s):

N. Lelli ◽

M. Ghisellini ◽

S. Calandra ◽

A. Gaddi ◽

A. Ciarrocchi ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Ldl Receptor ◽

Heterozygous Familial Hypercholesterolemia

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Heterozygous familial hypercholesterolemia: A new point-mutation (1372del2) in the LDL-receptor gene which causes severe hypercholesterolemia

Human Mutation ◽

10.1002/(sici)1098-1004(199910)14:4<357::aid-humu22>3.0.co;2-6 ◽

1999 ◽

Vol 14 (4) ◽

pp. 357-357 ◽

Author(s):

Kurt Widhalm ◽

Christa Iro ◽

Annabell Lindemayr ◽

Helena Schmidt ◽

Gert Kostner

Keyword(s):

Familial Hypercholesterolemia ◽

Point Mutation ◽

Receptor Gene ◽

Ldl Receptor ◽

Heterozygous Familial Hypercholesterolemia

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Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia

Human Mutation ◽

10.1002/(sici)1098-1004(1997)10:2<116::aid-humu4>3.0.co;2-i ◽

1997 ◽

Vol 10 (2) ◽

pp. 116-127 ◽

Author(s):

INM Day ◽

RA Whittall ◽

SD O'Dell ◽

L Haddad ◽

MK Bolla ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Ldl Receptor ◽

Gene Mutations ◽

Heterozygous Familial Hypercholesterolemia

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Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia

Atherosclerosis ◽

10.1016/s0021-9150(99)00158-6 ◽

1999 ◽

Vol 146 (2) ◽

pp. 337-344 ◽

Author(s):

H.K Jensen ◽

L.G Jensen ◽

H Meinertz ◽

P.S Hansen ◽

N Gregersen ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Ldl Receptor ◽

Gene Mutations ◽

Molecular Diagnostic ◽

Diagnostic Strategy ◽

Heterozygous Familial Hypercholesterolemia

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Do mutations in the LDL receptor gene explain variation in LDL-cholesterol concentrations in children with heterozygous familial hypercholesterolemia?

Atherosclerosis ◽

10.1016/0021-9150(94)93818-0 ◽

1994 ◽

Vol 109 (1-2) ◽

pp. 203-204 ◽

Author(s):

A.L. Torres ◽

S. Moorjani ◽

M.C. Vohl ◽

C. Gagne´ ◽

B. Lamarche ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Ldl Cholesterol ◽

Receptor Gene ◽

Ldl Receptor ◽

Heterozygous Familial Hypercholesterolemia

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Effects of apolipoprotein E polymorphism on LDL cholesterol concentrations in children with heterozygous familial hypercholesterolemia due to French Canadian deletion (>15 kb) in the LDL receptor gene

Atherosclerosis ◽

10.1016/0021-9150(94)93817-2 ◽

1994 ◽

Vol 109 (1-2) ◽

pp. 203

Author(s):

S. Moorjani ◽

A.L. Torres ◽

M.C. Vohl ◽

J.P. Despre´s ◽

B. Lamarche ◽

...

Keyword(s):

Apolipoprotein E ◽

Familial Hypercholesterolemia ◽

Ldl Cholesterol ◽

Receptor Gene ◽

Ldl Receptor ◽

French Canadian ◽

Heterozygous Familial Hypercholesterolemia ◽

Apolipoprotein E Polymorphism

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Characterization of point mutations in the LDL receptor gene in Dutch patients with heterozygous familial hypercholesterolemia (FH)

Atherosclerosis ◽

10.1016/0021-9150(94)93460-6 ◽

1994 ◽

Vol 109 (1-2) ◽

pp. 112

Author(s):

P. Lombardi ◽

E. Sijbrands ◽

J.C. Defesche ◽

J.J.P. Kastelein ◽

R.R. Frants ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Point Mutations ◽

Ldl Receptor ◽

Heterozygous Familial Hypercholesterolemia

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Coronary Artery Disease in Heterozygous Familial Hypercholesterolemia Patients With the Same LDL Receptor Gene Mutation

Circulation ◽

10.1161/01.cir.92.3.290 ◽

1995 ◽

Vol 92 (3) ◽

pp. 290-295 ◽

Author(s):

J. Ferrières ◽

J. Lambert ◽

S. Lussier-Cacan ◽

J. Davignon

Keyword(s):

Coronary Artery Disease ◽

Coronary Artery ◽

Familial Hypercholesterolemia ◽

Gene Mutation ◽

Receptor Gene ◽

Ldl Receptor ◽

Heterozygous Familial Hypercholesterolemia ◽

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Response to HMG CoA reductase inhibitors in heterozygous familial hypercholesterolemia due to the 10-kb deletion ("French Canadian mutation") of the LDL receptor gene.

Arteriosclerosis and Thrombosis A Journal of Vascular Biology ◽

10.1161/01.atv.14.8.1258 ◽

1994 ◽

Vol 14 (8) ◽

pp. 1258-1263 ◽

Author(s):

L Karayan ◽

S Qiu ◽

C Betard ◽

R Dufour ◽

G Roederer ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Ldl Receptor ◽

French Canadian ◽

Hmg Coa Reductase ◽

Heterozygous Familial Hypercholesterolemia ◽

Reductase Inhibitors ◽

Hmg Coa Reductase Inhibitors ◽

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Lack of evidence for reduced plasma apo B48 catabolism in patients with heterozygous familial hypercholesterolemia carrying the same null LDL receptor gene mutation

Atherosclerosis ◽

10.1016/j.atherosclerosis.2003.11.011 ◽

2004 ◽

Vol 172 (2) ◽

pp. 367-373 ◽

Author(s):

A Tremblay

Keyword(s):

Familial Hypercholesterolemia ◽

Gene Mutation ◽

Receptor Gene ◽

Ldl Receptor ◽

Heterozygous Familial Hypercholesterolemia

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Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana

Human Genetics ◽

10.1007/bf00210415 ◽

1995 ◽

Vol 96 (3) ◽

pp. 319-322 ◽

Author(s):

Erasmo Pereira ◽

Raoul Ferreira ◽

Brigitte Hermelin ◽

Ginette Thomas ◽

Chantal Bernard ◽

...

Keyword(s):

Familial Hypercholesterolemia ◽

Receptor Gene ◽

Ldl Receptor ◽

Gene Mutations ◽

Heterozygous Familial Hypercholesterolemia

Download Full-text